rs9332403

Variant names:

• chr10-115788979-G-A
• rs9332403
• NM_207303.4:c.3904-58898G>A

Your query was ambiguous. Multiple possible variants found:

• chr10-115788979-G-A
• chr10-115788979-G-C
• chr10-115788979-G-T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_207303.4(ATRNL1):​c.3904-58898G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.477 in 152,136 control chromosomes in the GnomAD database, including 18,604 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.48 (18604 hom., cov: 33)
• Consequence: ATRNL1 NM_207303.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.301
• Publications: 2 publications found

Genes affected

ATRNL1 (HGNC:29063): (attractin like 1) Predicted to enable carbohydrate binding activity. Predicted to be involved in several processes, including animal organ morphogenesis; cell migration; and substrate adhesion-dependent cell spreading. Predicted to act upstream of or within G protein-coupled receptor signaling pathway. Predicted to be located in membrane. Predicted to be integral component of membrane. Predicted to be active in basement membrane. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.736 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_207303.4. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ATRNL1	NM_207303.4	MANE Select	c.3904-58898G>A		intron	N/A	NP_997186.1	Q4G0Y2

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ATRNL1	ENST00000355044.8	TSL:1 MANE Select	c.3904-58898G>A		intron	N/A	ENSP00000347152.3	Q5VV63-1
	ATRNL1	ENST00000943847.1		c.3685-58898G>A		intron	N/A	ENSP00000613906.1
	ATRNL1	ENST00000650603.1		n.3796-58898G>A		intron	N/A	ENSP00000497485.1	A0A3B3ISV6

Frequencies

GnomAD3 genomes AF: 0.478 AC: 72599 AN: 152016 Hom.: 18595 Cov.: 33

Gnomad AFR AF: 0.295

Gnomad AMI AF: 0.531

Gnomad AMR AF: 0.599

Gnomad ASJ AF: 0.563

Gnomad EAS AF: 0.756

Gnomad SAS AF: 0.508

Gnomad FIN AF: 0.530

Gnomad MID AF: 0.532

Gnomad NFE AF: 0.523

Gnomad OTH AF: 0.520

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.477 AC: 72636 AN: 152136 Hom.: 18604 Cov.: 33 AF XY: 0.483 AC XY: 35908 AN XY: 74360

African (AFR) AF: 0.295 AC: 12237 AN: 41504

American (AMR) AF: 0.600 AC: 9175 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.563 AC: 1953 AN: 3472

East Asian (EAS) AF: 0.756 AC: 3912 AN: 5178

South Asian (SAS) AF: 0.509 AC: 2455 AN: 4820

European-Finnish (FIN) AF: 0.530 AC: 5600 AN: 10558

Middle Eastern (MID) AF: 0.527 AC: 155 AN: 294

European-Non Finnish (NFE) AF: 0.523 AC: 35559 AN: 67992

Other (OTH) AF: 0.523 AC: 1106 AN: 2116

Alfa AF: 0.469 Hom.: 2602

Bravo AF: 0.476

Asia WGS AF: 0.609 AC: 2118 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.69
DANN	Benign	0.77
PhyloP100		-0.30
Mutation Taster		=100/0	polymorphism (auto)

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs9332403; hg19: chr10-117548490;